Gene Curation Scientist (Population and Clinical Genomics)
Opportunity for full- or part-time
Can be home-based (if living within reasonable distance of Cambridge)
Competitive remuneration package which includes annual bonus, equity, healthcare, 10% pension and more!
Are you a geneticist with a passion for understanding the genetic basis of disease?
Are you interested in a role that is non-lab based and offers great opportunity for flexible working?
The Population and Medical Genomics group at Illumina explores applications of next-generation sequencing in healthcare. We would like to offer an exciting opportunity to be part of a team dedicated to building a knowledge base of curated human gene-disease relationships. The gene curation process is designed to evaluate the strength of a gene-disease association based on publicly available evidence curated from the literature and other resources. The initial emphasis will be on rare genetic diseases, but the project will extend over time to include somatic and complex genetic diseases.
Job duties include but are not limited to:
- Performing critical assessment and interpretation of information from the medical and scientific literature and other databases
- Extracting and scoring the relevant information following the gene curation SOP to arrive at an initial classification of the strength of the gene-disease relationship
- Discussion of results with senior team members to arrive at a final classification of the strength of the gene-disease relationship
- Entering the gene curation data and classification into an internal database